HEXA c.1216C>T ;(p.L406=)

Variant ID: 15-72638982-G-A

NM_000520.4(HEXA):c.1216C>T;(p.L406=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Rare Variants in Neurodegeneration Associated Genes Revealed by Targeted Panel Sequencing in a German ALS Cohort.

Frontiers In Molecular Neuroscience
Krüger, Stefanie S; Battke, Florian F; Sprecher, Andrea A; Munz, Marita M; Synofzik, Matthis M; Schöls, Ludger L; Gasser, Thomas T; Grehl, Torsten T; Prudlo, Johannes J; Biskup, Saskia S
Publication Date: 2016

Variant appearance in text: rs140482769
PubMed Link: 27790088
Variant Present in the following documents:
  • Main text
  • fnmol-09-00092.pdf
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: HEXA: L406L; rs140482769
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s002.xlsx, sheet 1
View BVdb publication page